Canonical Allele Identifier: CA2186513744

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811815_71811839delinsCAGTGCCAGGCCTGCCGGCTGAAGA , CM000677.2:g.71811815_71811839delinsCAGTGCCAGGCCTGCCGGCTGAAGA	GRCh38
NC_000015.9:g.72104155_72104179delinsCAGTGCCAGGCCTGCCGGCTGAAGA , CM000677.1:g.72104155_72104179delinsCAGTGCCAGGCCTGCCGGCTGAAGA	GRCh37
NC_000015.8:g.69891209_69891233delinsCAGTGCCAGGCCTGCCGGCTGAAGA	NCBI36
NG_009113.2:g.6261_6285delinsCAGTGCCAGGCCTGCCGGCTGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA MANE Select	ENSP00000482504.1:p.Gln99=
ENST00000617575.4:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA	ENSP00000482504.1:p.Gln99=
ENST00000621098.1:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA	ENSP00000479962.1:p.Gln99=
ENST00000621736.4:c.31_55delinsCAGTGCCAGGCCTGCCGGCTGAAGA	ENSP00000479254.1:p.Gln11=
NM_014249.3:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA	NP_055064.1:p.Gln99=
NM_016346.3:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA	NP_057430.1:p.Gln99=
XM_011521146.1:c.31_55delinsCAGTGCCAGGCCTGCCGGCTGAAGA	XP_011519448.1:p.Gln11=
NM_014249.4:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA MANE Select	NP_055064.1:p.Gln99=
NM_016346.4:c.295_319delinsCAGTGCCAGGCCTGCCGGCTGAAGA	NP_057430.1:p.Gln99=